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Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines

Human Molecular Genetics(2024)10.1093/hmg/ddae009Source: DataRank Database

Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines is a research paper published in Human Molecular Genetics (2024). On theSindex it has a DataRank of 0. It has been cited 7 times.

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0DataRank · unranked

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Open Access7 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (4 grants)Impact (FWCI 2.77)OA: greenTopics (28)IDs (PubMed, PMC, OpenAlex)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (16)

Kyriaki Michailidou ORCID,Michael T. Parsons ORCID,Jill S. Dolinsky ORCID,Tina Pesaran ORCID,Amal Yussuf ORCID

Live enrichment

PubMed:38271184 PMC:PMC11000651 OpenAlex:https://openalex.org/W4391211844

NHMRC

Grant: APP177524

NHMRC

Grant: APP1161589

National Breast Cancer Foundation

Grant: IIRS-21-102

NIH

Grant: R01 CA264971

FWCI

2.77

Citation Percentile

0.9%

Citation Trend

2024

2025

greenLicense: cc-by

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC11000651/pdf/ddae009.pdf

GREENhttps://pmc.ncbi.nlm.nih.gov/articles/PMC11000651/pdf/ddae009.pdf

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC11000651/pdf/ddae009.pdf

publisherhttps://academic.oup.com/hmg/article-pdf/33/8/724/57181427/ddae009.pdf

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/11000651

Fields of Study

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesCancer Genomics and DiagnosticsMedicine

MeSH Terms

Genetic TestingHumansNeoplasmsPhenotypeGenetic VariationGenome, HumanGenes, Neoplasm

Keywords

Computer scienceContext (archaeology)Medical geneticsGeneralizability theoryProbandBioinformaticsBiologyData miningGeneticsStatisticsMutationGeneLogistic regressionCancer geneGermline Variant ClassificationAcmg Ps4Proband Counting